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Journal Abstract Search

193 related items for PubMed ID: 26572954

  • 1. A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
    Waryah AM, Shahzad M, Shaikh H, Sheikh SA, Channa NA, Hufnagel RB, Makhdoom A, Riazuddin S, Ahmed ZM.
    Clin Genet; 2016 Jul; 90(1):90-5. PubMed ID: 26572954
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  • 3. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
    van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.
    Am J Med Genet A; 2008 Sep 15; 146A(18):2376-84. PubMed ID: 18698629
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  • 4. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
    Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR.
    Am J Med Genet A; 2017 Jan 15; 173(1):163-168. PubMed ID: 27753269
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  • 5. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
    Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S.
    Clin Genet; 2009 Apr 15; 75(4):375-83. PubMed ID: 19320654
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  • 8. Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
    Singh S, Jacob P, Patil SJ, Muranjan M, Shah H, Girisha KM, Bhavani GS.
    Am J Med Genet A; 2024 Mar 15; 194(3):e63422. PubMed ID: 37876363
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  • 10. Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
    Kakar N, Rehman FU, Kaur R, Bhavani GS, Goyal M, Shah H, Kaur K, Sodhi KS, Kubisch C, Borck G, Panigrahi I, Girisha KM, Kornak U, Spielmann M.
    Clin Genet; 2024 Jul 15; 106(1):47-55. PubMed ID: 38378010
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  • 14. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
    Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.
    Am J Med Genet A; 2010 Oct 15; 152A(10):2543-9. PubMed ID: 20830804
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  • 16. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
    Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.
    Matrix Biol; 2013 Oct 15; 32(7-8):387-92. PubMed ID: 23665482
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  • 17. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
    Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S.
    Proc Natl Acad Sci U S A; 2004 Jul 06; 101(27):10155-60. PubMed ID: 15215498
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  • 18. A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.
    Albuz B, Çetin GO, Özhan B, Sarikepe B, Anlaş Ö, Öztürk M, Zeybek S, Sabir N, Bağci G, Semerci Gündüz CN.
    Clin Dysmorphol; 2020 Jan 06; 29(1):61-64. PubMed ID: 31567425
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  • 19. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
    Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.
    Hum Mutat; 2015 Oct 06; 36(10):1004-8. PubMed ID: 26183434
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